Delphine Blain - National Eye Institute, National Institutes of Health

基本信息

浏览量：15

职业迁徙

个人简介

暂无内容

研究兴趣

论文共 50 篇作者统计合作学者相似作者

按年份排序按引用量排序主题筛选期刊级别筛选合作者筛选合作机构筛选

Case Report: Association of Ocular Colobomas with a Novel Missense Variant in CDC42, a Member of the Rho Family of Small GTPases

Diana Brightman, Nawaal Shinwari, Aleksey Porollo, Eniolami O Dosunmu,Ehsan Ullah, Bin Guan,Robert B Hufnagel,Brian P Brooks,Delphine Blain, Sabine Fuhrmann, Brittany Simpson, Anne M Slavotinek

Clinical genetics (2025)

引用0浏览0WOS引用

Highlighting the Supernormal Intensity Response of the Photopic ERG A-Wave in Enhanced S-cone Syndrome (ESCS)

Kati Veres,Ioannis Dimopoulos,Delphine Blain,Bin Guan,Ehsan Ullah,Robert B. Hufnagel,Wei Li,Marisa P. Boyle,Laryssa Huryn,Brian Patrick Brooks,Catherine A. Cukras,Brett Jeffrey,Wadih M. Zein

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCEno. 7 (2024)

引用0浏览0引用

Outer Retinal Microcavitations in Retinitis Pigmentosa: a Novel OCT Finding Common in RP1-related Retinopathy

Ioannis S Dimopoulos,Laryssa A Huryn,Robert B Hufnagel,Ehsan Ullah,Aime R Agather,Delphine Blain,Brian P Brooks,Catherine A Cukras,Wadih M Zein

Retina (Philadelphia, Pa)no. 7 (2024): 1260-1267

引用0浏览0WOS引用

A Novel Optical Coherence Tomography Finding Common in RP1-Related Retinopathy

Ioannis S. Dimopoulos,Laryssa A. Huryn,Robert B. Hufnagel,Ehsan Ullah,Aime R. Agather,Delphine Blain,Brian P. Brooks,Catherine A. Cukras,Wadih M. Zein

RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASESno. 7 (2024): 1260-1267

引用0浏览0引用

P657: Structural Variants Identified by Short-Read Genome Sequencing Solves Missing Heritability in Retinal Dystrophies

Ehsan Ullah,Amelia Naik,Chelsea Bender,Delphine Blain,Laryssa Huryn,Robert Hufnagel,Bin Guan

Genetics in Medicine Open (2024): 101562

引用0浏览0引用

Seeing in Color: Inclusion and Characterization of Hereditary Eye Disease in African Americans

Agnes C. Owete, Raisa Ionin,Laryssa A. Huryn,Catherine A. Cukras,Delphine Blain,Aime R. Agather,Robert B. Hufnagel,Brian P. Brooks,Kristen Nwanyanwu,Wadih M. Zein

TRANSLATIONAL VISION SCIENCE & TECHNOLOGYno. 9 (2024)

引用0浏览0WOS引用

Variants in NR6A1 Cause a Novel Oculo-Vertebral-renal (OVR) Syndrome

Uma M Neelathi,Ehsan Ullah,Aman George, Mara I Maftei,Elangovan Boobalan, Daniel Sanchez-Mendoza, Chloe Adams,David McGaughey,Yuri V Sergeev, Ranya Ai Rawi,Amelia Naik,Chelsea Bender,Irene H Maumenee,Michel Michaelides, Tun Giap Tan,Siying Lin,Rafael Villasmil,Delphine Blain,Robert B Hufnagel,Gavin Arno,Rodrigo M Young,Bin Guan,Brian P Brooks

Research square (2024)

引用0浏览0WOS引用

Nested PCR As an Economical and Robust Approach for Detecting Aberrant Splicing Events in Clinically Accessible Tissues

Amelia Naik,Ehsan Ullah,Chelsea Bender, Ranya Al Rawi,Koray Dogan Kaya,David McGaughey,Aime Agather,Delphine Blain,Brian Patrick Brooks,Catherine A. Cukras,Laryssa Huryn,Kerry E. Goetz,Robert B. Hufnagel,Bin Guan

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE（2024）

引用0浏览0引用

P336: Resolving Missing Heritability by Iterative Multidisciplinary and Organ-Specific Reanalysis

Ehsan Ullah,Bin Guan,Amelia Naik,Chelsea Bender, Ranya Al Rawi,Delphine Blain,Aime Agather,Laryssa Huryn,Wadih Zein,Catherine Cukras,Brian Brooks,Robert Hufnagel

Genetics in Medicine Openno. 1 (2023): 100364-100364

引用0浏览0引用

A Novel Variant Affecting the Cytoplasmic Tail of the FAT1 Protocadherin Causing Coloboma and Renal Failure: A Case Report

Emile R. Vieta-Ferrer,Ehsan Ullah,Delphine Blain,Julie A. Christensen,Carmen C. Brewer,James E. Balow,Aman George,Robert B. Hufnagel,Tiziana Cogliati,Brian P. Brooks

OPHTHALMIC GENETICSno. 2 (2023): 182-185

引用0浏览0WOS引用

加载更多

作者统计

合作学者

合作机构

D-Core

合作者
学生
导师

暂无相似学者，你可以通过学者研究领域进行搜索筛选

数据免责声明

页面数据均来自互联网公开来源、合作出版商和通过AI技术自动分析结果，我们不对页面数据的有效性、准确性、正确性、可靠性、完整性和及时性做出任何承诺和保证。若有疑问，可以通过电子邮件方式联系我们：report@aminer.cn